Submissions for variant NM_004360.5(CDH1):c.2296-15C>T

dbSNP: rs1057521164

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000427013	SCV000521373	likely benign	not specified	2015-11-18	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health	RCV001181111	SCV001346194	uncertain significance	Hereditary cancer-predisposing syndrome	2019-11-27	criteria provided, single submitter	clinical testing	This variant causes a C>T nucleotide substitution at the -15 position of intron 14 of the CDH1 gene. To our knowledge, functional studies have not been performed for this variant. This variant has not been reported in individuals affected with hereditary cancer in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Although there is a suspicion that this variant may not impact splicing, additional studies are necessary to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.
Labcorp Genetics (formerly Invitae), Labcorp	RCV002064992	SCV002482915	likely benign	Hereditary diffuse gastric adenocarcinoma	2023-10-03	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV002064992	SCV005405366	likely benign	Hereditary diffuse gastric adenocarcinoma	2024-09-23	criteria provided, single submitter	clinical testing	This variant is considered likely benign. This variant is intronic and is not expected to impact mRNA splicing.